The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation

SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

(2010) Vincent Cantagrel et al.   CELL

Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation

(2010) J. Lubbehusen et al.   HUMAN MOLECULAR GENETICS

Fragmentation of negative ions from N-linked carbohydrates, Part 4. Fragmentation of complex glycans lacking substitution on the 6-antenna

(2010) David J. Harvey et al.   JOURNAL OF MASS SPECTROMETRY

Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies

(2009) Dirk J. Lefeber et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CDG nomenclature: Time for a change!

(2009) Jaak Jaeken et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

A new mutation in COG7 extends the spectrum of COG subunit deficiencies

(2009) Renate Zeevaert et al.   European Journal of Medical Genetics

Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation

(2009) P. Paesold-Burda et al.   HUMAN MOLECULAR GENETICS

Golgi function and dysfunction in the first COG4-deficient CDG type II patient

(2009) Ellen Reynders et al.   HUMAN MOLECULAR GENETICS

Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia

(2008) Rita Barone et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Ion Mobility Mass Spectrometry Analysis of Human Glycourinome

(2008) Sergey Y. Vakhrushev et al.   ANALYTICAL CHEMISTRY

Glycosylation diseases: Quo vadis?

(2008) Harry Schachter et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

COG defects, birth and rise!

(2008) François Foulquier   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Characterizing the glycome of the mammalian immune system

(2008) Stuart M Haslam et al.   IMMUNOLOGY AND CELL BIOLOGY

Mass spectrometry in the characterization of human genetic N-glycosylation defects

(2008) Rita Barone et al.   MASS SPECTROMETRY REVIEWS

Multiplexed glycoproteomic analysis of glycosylation disorders by sequential yolk immunoglobulins immunoseparation and MALDI-TOF MS

(2008) Luisa Sturiale et al.   PROTEOMICS

Deficiencies in subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group of Congenital Disorders of Glycosylation

(2007) Renate Zeevaert et al.   MOLECULAR GENETICS AND METABOLISM